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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

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rs114482497

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr18:131763 (GRCh38.p14) Help

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Alleles
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.002641 (699/264690, TOPMED)
A=0.002218 (311/140190, GnomAD)
A=0.00102 (26/25548, ALFA) (+ 4 more)
A=0.0017 (11/6404, 1000G_30x)
A=0.0018 (9/5008, 1000G)
G=0.5 (4/8, SGDP_PRJ)
A=0.5 (4/8, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
0 citations
Genomic View
See rs on genome

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Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 25548 G=0.99898 A=0.00102
European Sub 20142 G=0.99995 A=0.00005
African Sub 3138 G=0.9930 A=0.0070
African Others Sub 124 G=1.000 A=0.000
African American Sub 3014 G=0.9927 A=0.0073
Asian Sub 126 G=1.000 A=0.000
East Asian Sub 98 G=1.00 A=0.00
Other Asian Sub 28 G=1.00 A=0.00
Latin American 1 Sub 164 G=1.000 A=0.000
Latin American 2 Sub 684 G=0.999 A=0.001
South Asian Sub 114 G=1.000 A=0.000
Other Sub 1180 G=0.9983 A=0.0017


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Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 G=0.997359 A=0.002641
gnomAD - Genomes Global Study-wide 140190 G=0.997782 A=0.002218
gnomAD - Genomes European Sub 75916 G=0.99992 A=0.00008
gnomAD - Genomes African Sub 42016 G=0.99310 A=0.00690
gnomAD - Genomes American Sub 13654 G=0.99927 A=0.00073
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3128 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2154 G=0.9977 A=0.0023
Allele Frequency Aggregator Total Global 25548 G=0.99898 A=0.00102
Allele Frequency Aggregator European Sub 20142 G=0.99995 A=0.00005
Allele Frequency Aggregator African Sub 3138 G=0.9930 A=0.0070
Allele Frequency Aggregator Other Sub 1180 G=0.9983 A=0.0017
Allele Frequency Aggregator Latin American 2 Sub 684 G=0.999 A=0.001
Allele Frequency Aggregator Latin American 1 Sub 164 G=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 126 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 114 G=1.000 A=0.000
1000Genomes_30x Global Study-wide 6404 G=0.9983 A=0.0017
1000Genomes_30x African Sub 1786 G=0.9938 A=0.0062
1000Genomes_30x Europe Sub 1266 G=1.0000 A=0.0000
1000Genomes_30x South Asian Sub 1202 G=1.0000 A=0.0000
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=1.000 A=0.000
1000Genomes Global Study-wide 5008 G=0.9982 A=0.0018
1000Genomes African Sub 1322 G=0.9932 A=0.0068
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=1.0000 A=0.0000
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=1.000 A=0.000
SGDP_PRJ Global Study-wide 8 G=0.5 A=0.5
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Genomic Placements
Sequence name Change
GRCh38.p14 chr 18 NC_000018.10:g.131763G>A
GRCh37.p13 chr 18 NC_000018.9:g.131763G>A
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Not Reported in ClinVar
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Placement G= A
GRCh38.p14 chr 18 NC_000018.10:g.131763= NC_000018.10:g.131763G>A
GRCh37.p13 chr 18 NC_000018.9:g.131763= NC_000018.9:g.131763G>A
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24 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss227692496 Jul 14, 2010 (132)
2 ILLUMINA ss480986017 May 04, 2012 (137)
3 ILLUMINA ss483696278 May 04, 2012 (137)
4 ILLUMINA ss534064440 Sep 08, 2015 (146)
5 TISHKOFF ss565450950 Apr 25, 2013 (138)
6 ILLUMINA ss779245412 Sep 08, 2015 (146)
7 ILLUMINA ss781368056 Sep 08, 2015 (146)
8 ILLUMINA ss834711782 Sep 08, 2015 (146)
9 JMKIDD_LAB ss1081263270 Aug 21, 2014 (142)
10 1000GENOMES ss1359815928 Aug 21, 2014 (142)
11 HUMAN_LONGEVITY ss2219188623 Dec 20, 2016 (150)
12 ILLUMINA ss2633434955 Nov 08, 2017 (151)
13 GNOMAD ss2953245297 Nov 08, 2017 (151)
14 ILLUMINA ss3627740791 Oct 12, 2018 (152)
15 ILLUMINA ss3631413376 Oct 12, 2018 (152)
16 SGDP_PRJ ss3886376818 Apr 27, 2020 (154)
17 TOPMED ss5046077971 Apr 26, 2021 (155)
18 1000G_HIGH_COVERAGE ss5304190464 Oct 16, 2022 (156)
19 EVA ss5429481729 Oct 16, 2022 (156)
20 HUGCELL_USP ss5497123092 Oct 16, 2022 (156)
21 1000G_HIGH_COVERAGE ss5608394917 Oct 16, 2022 (156)
22 SANFORD_IMAGENETICS ss5660682928 Oct 16, 2022 (156)
23 EVA ss5872881679 Oct 16, 2022 (156)
24 EVA ss5952081641 Oct 16, 2022 (156)
25 1000Genomes NC_000018.9 - 131763 Oct 12, 2018 (152)
26 1000Genomes_30x NC_000018.10 - 131763 Oct 16, 2022 (156)
27 gnomAD - Genomes NC_000018.10 - 131763 Apr 26, 2021 (155)
28 SGDP_PRJ NC_000018.9 - 131763 Apr 27, 2020 (154)
29 TopMed NC_000018.10 - 131763 Apr 26, 2021 (155)
30 ALFA NC_000018.10 - 131763 Apr 26, 2021 (155)
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Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss483696278 NC_000018.8:121762:G:A NC_000018.10:131762:G:A (self)
73101822, 38393798, ss227692496, ss480986017, ss534064440, ss565450950, ss779245412, ss781368056, ss834711782, ss1081263270, ss1359815928, ss2633434955, ss2953245297, ss3627740791, ss3631413376, ss3886376818, ss5429481729, ss5660682928, ss5952081641 NC_000018.9:131762:G:A NC_000018.10:131762:G:A (self)
95920852, 515825805, 261623634, 11271808624, ss2219188623, ss5046077971, ss5304190464, ss5497123092, ss5608394917, ss5872881679 NC_000018.10:131762:G:A NC_000018.10:131762:G:A (self)
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No publications for rs114482497

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Genome context:
Select flank length:

Genomic regions, transcripts, and products
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Software version is: 2.0.1.post761+d5e8e07